A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5347



Internal ID15550147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:72080660..72106937hg38UCSC Ensembl
Outerchr6:72790363..72816640hg19UCSC Ensembl
Outerchr6:72847084..72873361hg18UCSC Ensembl
Outerchr6:72847084..72873361hg17UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg385776
hg195776
hg185776
hg175776
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11129, nssv8262
SamplesNA12156, NA15510
Known GenesRIMS1
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv5347
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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